P54S (p.Pro54Ser) variant of CYP2E1 (Cytochrome P450 2E1)
P54S (p.Pro54Ser) in CYP2E1 (Cytochrome P450 2E1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
P54S (p.Pro54Ser) variant details
- p.Pro54Ser
- cosmic curated COSV10636
- TOPMed rs1265920662
- gnomAD rs1265920662
- Missense
- Variant Prioritization Score for Impact Estimate 0.352
- REVEL 0.18
- MetaLR 0.31
- MetaSVM -0.38
- CADD 17.40
- PolyPhen-2 1.00
- SIFT 1.00
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available